A novel mutation in CDKN1C in sibs with Beckwith–Wiedemann syndrome and cleft palate,sensorineural hearing loss,and supernumerary flexion creases |
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| Authors: | Piranit Nik Kantaputra Rekwan Sittiwangkul Nuntigar Sonsuwan Valeria Romanelli Jair Tenorio Pablo Lapunzina |
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| Affiliation: | 1. Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand;2. Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand;3. DENTALAND CLINIC, Chiang Mai, Thailand;4. Division of Pediatric Cardiology, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand;5. Department of Otolaryngology, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand;6. INGEMM, Instituto de Genética Médica y Molecular, IDIPaz, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain;7. CIBERER‐Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain |
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| Abstract: | ![]()
We report on two daughters and a son of a Thai family who were affected with BWS. Their clinical findings consist of cleft palate, omphalocele, anterior ear creases, indented lesions on the posterior rim of the helix, macroglossia, posterior crossbite, and anterior open bite. The younger daughter and son had newly recognized findings of the BWS including sensorineural hearing loss and supernumerary flexion creases of the fingers. A novel mutation in CDKN1C (c.579delT; p.A193AfsX46) was found in all affected individuals and their mother. This mutation is located in the central highly polymorphic hexanucleotide repeat encoding a proline‐alanine series of repeats (PAPA‐domain). This domain is involved in MAP kinase phosphorylation. This is for the first time that sensorineural hearing loss and supernumerary flexion creases of the fingers are associated with mutation in CDKN1C. © 2012 Wiley Periodicals, Inc. |
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| Keywords: | anterior open bite cryptorchidism hearing loss p57kip2 posterior crossbite macroglossia |
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